Variant report

Variant	rs6798553
Chromosome Location	chr3:196339852-196339853
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:196339151..196341889-chr3:196694404..196697561,3	K562	blood:
2	chr3:196338663..196341923-chr3:196355060..196359502,4	K562	blood:

Variant related genes	Relation type
ENSG00000232065	Chromatin interaction
ENSG00000119227	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11719820	0.88[ASN][1000 genomes]
rs12718060	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13075023	0.88[ASN][1000 genomes]
rs13075160	0.88[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs1973264	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6763582	0.87[ASN][1000 genomes]
rs6809251	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7629845	0.83[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9858309	0.81[AMR][1000 genomes]
rs9868705	0.89[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs9883029	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003194	chr3:195960270-196342423	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv536894	chr3:195960270-196342423	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv1003066	chr3:196098763-196414159	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv948681	chr3:196148055-197007546	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv1014692	chr3:196242249-196531824	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	nsv878187	chr3:196245603-196554790	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv491864	chr3:196263064-196468533	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv829828	chr3:196268121-196463641	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	nsv1010643	chr3:196288064-196788645	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
10	nsv878188	chr3:196312124-196553867	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196336000-196340200	Enhancers	Primary T cells fromperipheralblood	blood
2	chr3:196336200-196341000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr3:196336800-196345800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr3:196337000-196347000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr3:196337200-196340400	Weak transcription	Left Ventricle	heart
6	chr3:196337200-196347000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr3:196337800-196340400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr3:196338600-196340000	Flanking Active TSS	Dnd41	blood
9	chr3:196338800-196340200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:196339000-196340000	Enhancers	Spleen	Spleen
11	chr3:196339000-196346000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr3:196339200-196346200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr3:196339400-196340800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:196339400-196341200	Enhancers	Fetal Thymus	thymus
15	chr3:196339400-196344200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:196339400-196345800	Weak transcription	Colon Smooth Muscle	Colon
17	chr3:196339400-196346000	Weak transcription	Right Atrium	heart
18	chr3:196339600-196340000	Enhancers	Primary T cells from cord blood	blood
19	chr3:196339600-196340000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr3:196339600-196340000	Enhancers	K562	blood
21	chr3:196339600-196340600	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr3:196339600-196340800	Enhancers	HUVEC	blood vessel
23	chr3:196339600-196341200	Enhancers	Primary hematopoietic stem cells	blood
24	chr3:196339600-196346000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr3:196339600-196346000	Weak transcription	Brain Anterior Caudate	brain
26	chr3:196339600-196346200	Weak transcription	Fetal Muscle Leg	muscle
27	chr3:196339600-196346800	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr3:196339600-196347000	Weak transcription	Primary B cells from cord blood	blood
29	chr3:196339600-196347000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:196339600-196347000	Weak transcription	Lung	lung
31	chr3:196339600-196354800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr3:196339800-196340600	Enhancers	Hela-S3	cervix
33	chr3:196339800-196340800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr3:196339800-196341000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:196339800-196342000	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr3:196339800-196343400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr3:196339800-196343400	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr3:196339800-196343600	Weak transcription	Fetal Intestine Small	intestine
39	chr3:196339800-196344200	Weak transcription	Thymus	Thymus
40	chr3:196339800-196345800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr3:196339800-196346000	Weak transcription	Adipose Nuclei	Adipose
42	chr3:196339800-196346000	Weak transcription	Placenta	Placenta
43	chr3:196339800-196351000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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